Mutation Details for c.1585-2A>G
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cDNA Name
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c.1585-2A>G
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Exon or Intron
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intron 11
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Legacy Exon or Intron
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intron 10
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1717-2A->G
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Other Details
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The above mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. 1717-2A->G was found in a male CF patient of Romanian origin (referred by Prof. I. Popa of Timisoara, Romania) whose other mutation is [delta]F508. 1717-2A->G was seen only once in over 100 non-[delta]F508 CF chromosomes screened.
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Contributors
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Hawworth A,
Schwarz M,
Malone G
1995-09-04
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Institute
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Royal Manchester Children's Hospital,
England
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Submitted Phenotype Details
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One male CF patient born in 1993, carrying DelF508 on the other allele.
(pers. corr. Schwarz)
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Reference
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Hawworth et al (NL#67)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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